Mouse Study Finds Link Between Key Mitochondrial Protein and CMT2A, Making It a Possible Therapeutic Target

In a study conducted in mice, scientists led by an MDA-funded researcher found that increasing the amount of a certain mitochondrial membrane protein, mitofusin-1 (MFN1), lessened symptoms of Charcot-Marie-Tooth disease (CMT) type 2A. The findings suggest that it may be possible to treat CMT2A using gene-replacement therapies that deliver functional copies of missing or mutated . . .

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FDA Grants Orphan Drug Designation to Acceleron Pharma’s ACE-083 Muscle Growth Drug for Charcot-Marie-Tooth Disease

On Mar. 5, the U.S. Food and Drug Administration (FDA) awarded Orphan Drug designation to Acceleron Pharma’s ACE-083, a locally acting muscle agent, for treating Charcot-Marie-Tooth disease (CMT). Delivered by intramuscular injection, ACE-083 is based on the naturally occurring protein follistatin and is designed to enhance the body’s own promoters of muscle growth, specifically in . . .

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Clinical Trial Alert: Researchers at Neurogene Seek Participants for a CMT4J Natural History Study

Researchers at Neurogene are seeking participants living with Charcot-Marie-Tooth disease (CMT) type 4J to participate in a natural history study. This study aims to better understand disease course so researchers will be able to determine clinically meaningful outcome measures for use in future clinical trials. This five-year study will consist of 10 visits (one visit every six months). . . .

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CMTA and MDA Co-Fund Proof-of-Concept Study Using AAV Vector to Deliver Gene Replacement Therapy in X-linked Charcot-Marie-Tooth Disease

On Mar. 1, the Charcot-Marie-Tooth Association (CMTA) and the Muscular Dystrophy Association (MDA) announced that they have jointly awarded a research grant totaling $276,430 over three years to Kleopas Kleopa, M.D., professor and senior consulting neurologist at the Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, in Nicosia, Cyprus. Dr. Kleopa is . . .

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Elizabethtown College Seeks Young Adults With CMT for Survey About Social Life

Young adults living with Charcot-Marie-Tooth disease: You can help in a new study. Allison Eveler, a senior occupational therapy major at Elizabethtown College in Pennsylvania, is conducting an undergraduate research study to determine the impacts of CMT on the social participation of young adults. Allison, who herself lives with CMT, recognized a need for research . . .

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For Lainie Ishbia, CMT and Personal Style Aren’t Mutually Exclusive

Growing up with Charcot-Marie-Tooth disease (CMT), Lainie Ishbia learned about living with invisible disability — experiencing the daily struggle of movement without looking, outwardly and obviously, as if that’s the case. She also learned, once ankle-foot orthotics (AFOs, or braces) made her disability visible, those devices designed to help make movement easier can also make . . .

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Pharnext Announces Positive Results from Phase 3 Trial Using PXT3003 to Treat CMT1A

Today, French pharmaceutical company Pharnext SA announced positive topline results from its pivotal Phase 3 clinical trial (PLEO-CMT) evaluating two doses of PXT3003 compared to placebo during 15 months for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A). PLEO-CMT was a pivotal, 15-month, double-blind Phase 3 study that assessed the efficacy and safety of PXT3003 compared . . .

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Three Major Patient Advocacy Groups Focused on CMT Research to Collaborate on FDA “Voice of the Patient Report” and Patient-Focused Meeting

In honor of Charcot-Marie-Tooth (CMT) Awareness Month, the Muscular Dystrophy Association joins the Charcot-Marie-Tooth Association (CMTA) and the Hereditary Neuropathy Foundation (HNF) to host an externally led patient-focused drug development (PFDD) meeting for CMT. The PFDD meeting is being held on Friday, Sept. 28 at the College Park Marriott Hotel and Conference Center in Hyattsville, . . .

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Exploring the Latest in MDA’s CMT Research

The future of Charcot-Marie-Tooth research and treatments rests where the disease begins: in genes. While many new genes involved in CMT have been identified, we know as many as 40 percent of people living with CMT still don’t have a confirmed genetic diagnosis. We’re also still trying to understand the disease mechanisms of the genes . . .

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